UniProtKB/SwissProt variant VAR

Lysine-specific histone demethylase 1A
Gene: KDM1A
Feedback?

Variant information Variant position:

556
Type of variant:

LP/P [Disclaimer]
Residue change:

From Aspartate (D) to Glycine (G) at position 556 (D556G, p.Asp556Gly).
Physico-chemical properties:

Change from medium size and acidic (D) to glycine (G)
BLOSUM score:

-1
Variant description:

In CPRF.
Other resources:

Variant rs864309716 [ dbSNP | Ensembl ]

Sequence information Variant position:

556
Protein sequence length:

852
Location on the sequence:

LEFANATPLSTLSLKHWDQD D DFEFTGSHLTVRNGYSCVPV
Residue conservation:

Human                         LEFANATPLSTLSLKHWDQDDDFEFTGSHLTVRNGYSCVPV

Mouse                         LEFANATPLSTLSLKHWDQDDDFEFTGSHLTVRNGYSCVPV

Caenorhabditis elegans        EEYLVGAQLEKVQFSCDSMQNKENGVAARLT--EGIAELLT

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 852	Lysine-specific histone demethylase 1A
Region	300 – 852	Demethylase activity
Mutagenesis	564 – 564	H -> A. Strongly reduces demethylase activity.
Helix	556 – 558

Literature citations
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A.; Wieczorek D.; Graf E.; Wieland T.; Endele S.; Schwarzmayr T.; Albrecht B.; Bartholdi D.; Beygo J.; Di Donato N.; Dufke A.; Cremer K.; Hempel M.; Horn D.; Hoyer J.; Joset P.; Roepke A.; Moog U.; Riess A.; Thiel C.T.; Tzschach A.; Wiesener A.; Wohlleber E.; Zweier C.; Ekici A.B.; Zink A.M.; Rump A.; Meisinger C.; Grallert H.; Sticht H.; Schenck A.; Engels H.; Rappold G.; Schroeck E.; Wieacker P.; Riess O.; Meitinger T.; Reis A.; Strom T.M.;
Lancet 380:1674-1682(2012)
Cited for: VARIANT CPRF GLY-556; Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
Chong J.X.; Yu J.H.; Lorentzen P.; Park K.M.; Jamal S.M.; Tabor H.K.; Rauch A.; Saenz M.S.; Boltshauser E.; Patterson K.E.; Nickerson D.A.; Bamshad M.J.;
Genet. Med. 18:788-795(2016)
Cited for: VARIANTS CPRF LYS-379; GLY-556 AND HIS-761;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60341: Variant p.Asp556Gly